Linked Data
dbSNP Id:
rs1326154344
gnomAD v2:
4-100504723-T-TTTA
MyVariant Identifiers:
chr4:g.100504723_100504724insTTA (hg19)
chr4:g.99583566_99583567insTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583566_99583567insTTA , CM000666.2:g.99583566_99583567insTTA | GRCh38 |
| NC_000004.11:g.100504723_100504724insTTA , CM000666.1:g.100504723_100504724insTTA | GRCh37 |
| NC_000004.10:g.100723746_100723747insTTA | NCBI36 |
| NG_011469.1:g.24484_24485insTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.393+49_393+50insTTA MANE Select | ENSP00000265517.5:n.393+49_393+50insTTA | |
| ENST00000457717.6:c.393+49_393+50insTTA | ENSP00000400821.1:n.393+49_393+50insTTA | |
| ENST00000511045.6:c.144+49_144+50insTTA | ENSP00000427679.2:n.144+49_144+50insTTA | |
| ENST00000265517.9:c.393+49_393+50insTTA | ENSP00000265517.5:n.393+49_393+50insTTA | |
| ENST00000422897.6:c.442_443insTTA | ENSP00000407350.2:p.Ser148delinsPheThr | |
| ENST00000457717.5:c.393+49_393+50insTTA | ENSP00000400821.1:n.393+49_393+50insTTA | |
| ENST00000506883.5:c.423+49_423+50insTTA | ENSP00000426755.1:n.423+49_423+50insTTA | |
| ENST00000511045.5:c.474+49_474+50insTTA | ENSP00000427679.1:n.474+49_474+50insTTA | |
| ENST00000619629.1:c.393+49_393+50insTTA | ENSP00000482850.1:n.393+49_393+50insTTA | |
| NM_000253.3:c.393+49_393+50insTTA | NP_000244.2:n.393+49_393+50insTTA | |
| NM_001300785.1:c.474+49_474+50insTTA | NP_001287714.1:n.474+49_474+50insTTA | |
| NM_000253.4:c.393+49_393+50insTTA | NP_000244.2:n.393+49_393+50insTTA | |
| NM_001300785.2:c.144+49_144+50insTTA | NP_001287714.2:n.144+49_144+50insTTA | |
| NM_001386140.1:c.393+49_393+50insTTA MANE Select | NP_001373069.1:n.393+49_393+50insTTA |